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FLASH GENE

Symbol

ABCB11

contributors: mct/npt - updated : 26-05-2016

HGNC name	ATP-binding cassette, sub-family B (MDR/TAP), member 11
HGNC id	42

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	108.39 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence
text structure	a farnesoid X responsive element (FXRE) activated by the bile salt

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003742 28 - 4775 NP_003733 - 1321 - Strautnieks (1998)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	two ATP binding
	two transmembrane domains (2x6 segments)

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Abcb11

Homologene

FAMILY	ATP binding cassette superfamily
	multidrug resistance exporter subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	canalicular microvilli and subcanalicular vesicles

basic FUNCTION	high-affinity bile salt transporter involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes
	G6PC2 may underlie variation in fasting glucose, though it is possible that ABCB11, which is expressed primarily in liver, may also contribute to such variation
	membrane cholesterol content is a critical determinant of ABCB11/ABCC2 transport activity, providing an explanation for the etiology of ATP8B1 disease (Paulusma 2009)
	mediates the secretion of numerous conjugated bile salts into the bile canaliculus (Kim 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	bile acid transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	ATP

protein

pericanalicular calcium signaling mediated by ITPR2 plays an important role in maintaining bile salt secretion through posttranslational regulation of ABCB11, suggesting that loss or redistribution of ITPR2 may contribute to the pathophysiology of intrahepatic cholestasis

cell & other

REGULATION

activated by

FXR,RXRA and bile salts

inhibited by

by therapeutic drugs

ASSOCIATED DISORDERS

corresponding disease(s)

PFIC2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   of NR1H4, NR0B2, SLC10A1 and ABCB11 was significantly up-regulated in the non-alcoholic steatohepatitis (NASH) in comparison with simple steatosis (SS) patients

Susceptibility

to intrahepatic cholestasis of pregnancy (ICP) to drug-induced cholestasis

Variant & Polymorphism other	V444A polymorphism is a significant risk factor for ICP(Dixon 2009)
	polylmorphisms increasing drug-induced cholestasis (Lang 2007)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS